Phenotype #0000355041

Individual ID	00469896
Associated disease	skeletal dysplasia
Diagnosis/Initial	short stature
Diagnosis/Definite	SEDCJD
Phenotype details	see paper; ..., short stature, height 104.1cm (SD-3.6); height 124.4cm (SD-6.8); facial dysmorphism; no cognitive impairment; short dental roots; delayed bone age; metaphyseal abnormalities
Inheritance	Familial, autosomal recessive
Age/Examination	17y5m (17 years, 5 months)
Age/Diagnosis	-
Age/Onset	8y5m
Phenotype/Onset	short stature
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-20 19:27:00 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.

Global Variome shared LOVD